NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter) AND Brugada syndrome 1

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000010006.5

Allele description [Variation Report for NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter)]

NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.4(SCN5A):c.4259G>A (p.Trp1420Ter)
HGVS:
  • NC_000003.12:g.38557268C>T
  • NG_008934.1:g.97405G>A
  • NM_000335.4:c.4259G>A
  • NM_001099404.1:c.4262G>A
  • NM_001099405.1:c.4246-690G>A
  • NM_198056.2:c.4262G>A
  • NP_000326.2:p.Trp1420Ter
  • NP_001092874.1:p.Trp1421Ter
  • NP_932173.1:p.Trp1421Ter
  • LRG_289t1:c.4262G>A
  • LRG_289t2:c.4259G>A
  • LRG_289t3:c.4262G>A
  • LRG_289:g.97405G>A
  • LRG_289p1:p.Trp1421Ter
  • LRG_289p2:p.Trp1420Ter
  • LRG_289p3:p.Trp1421Ter
  • NC_000003.11:g.38598759C>T
Protein change:
W1420*; TRP1421TER
Links:
OMIM: 600163.0036; dbSNP: 137854620
NCBI 1000 Genomes Browser:
rs137854620
Molecular consequence:
  • NM_001099405.1:c.4246-690G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000335.4:c.4259G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Brugada syndrome 1 (BRGDA1)
Identifiers:
MedGen: CN029323; Orphanet: 130; OMIM: 601144
Age of onset:
Adult
Prevalence:
1-5 / 10 000 130

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030227OMIMno assertion criteria providedPathogenic
(Oct 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.

Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT.

J Med Genet. 2006 Oct;43(10):817-21.

PubMed [citation]
PMID:
16707561
PMCID:
PMC2563172

Details of each submission

From OMIM, SCV000030227.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a 4-generation Han Chinese family with autosomal dominant cardiac arrhythmias and sudden death (BRGDA1; 601144), Niu et al. (2006) identified heterozygosity for a G-A transition in exon 24 of the SCN5A gene, resulting in a trp1421-to-ter (W1421X) substitution. The mutation was not found in 95 control subjects. An asymptomatic 73-year-old male family member was found to be compound heterozygous for W1421X and the R1993Q mutation (600163.0023). Niu et al. (2006) suggested that R1193Q, which results in a gain of sodium channel function, may compensate for the deleterious effects of W1421X.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016